N74S (p.Asn74Ser) variant of HSD17B3 (P37058)
N74S (p.Asn74Ser) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N74S (p.Asn74Ser) variant details
- p.Asn74Ser
- ExAC rs780178733
- TOPMed rs780178733
- gnomAD rs780178733
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.36
- MetaLR 0.62
- MetaSVM 0.42
- CADD 21.10
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available